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引用次数: 0
摘要
Von Hippel-Lindau （VHL）病是一种遗传性疾病，易使个体在各器官发生良性和恶性肿瘤。这篇综述探讨了VHL疾病复杂的遗传基础、临床表现和相关的恶性肿瘤风险。最新的诊断标准、监测指南和治疗策略的进展，包括食品和药物管理局批准的缺氧诱导因子-2α抑制剂Belzutifan，都是重点。通过多学科的方法，量身定制的监测计划旨在改善患者的结果，同时平衡干预风险。全身磁共振成像和液体活检等新兴技术有望加强非侵入性监测。这篇综述强调了正在进行的研究和跨学科治疗在治疗这种复杂综合征中的重要性。
Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
von Hippel-Lindau (VHL) disease is a genetic condition predisposing individuals to the development of benign and malignant tumors across various organs. This review explores the intricate genetic underpinnings of VHL disease, its clinical manifestations, and the associated malignancy risks. The latest diagnostic criteria, surveillance guidelines, and advancements in therapeutic strategies, including the Food and Drug Administration-approved hypoxia-inducible factor-2α inhibitor, belzutifan, are focused on. Through a multidisciplinary approach, tailored surveillance programs aim to improve patient outcomes while balancing intervention risks. Emerging technologies such as wholebody magnetic resonance imaging and liquid biopsies hold promises for enhancing non-invasive surveillance. This review underscores the significance of ongoing research and interdisciplinary care in managing this complex syndrome.
期刊介绍：
The Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc) is the official journal of the Korean Neurosurgical Society, and published bimonthly (1st day of January, March, May, July, September, and November). It launched in October 31, 1972 with Volume 1 and Number 1. J Korean Neurosurg Soc aims to allow neurosurgeons from around the world to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism. This journal publishes Laboratory Investigations, Clinical Articles, Review Articles, Case Reports, Technical Notes, and Letters to the Editor. Our field of interest involves clinical neurosurgery (cerebrovascular disease, neuro-oncology, skull base neurosurgery, spine, pediatric neurosurgery, functional neurosurgery, epilepsy, neuro-trauma, and peripheral nerve disease) and laboratory work in neuroscience.
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